both syndromes are associated with hemizygous 22q11 deletions. Because many of the tissues and structures

affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that

haploinsufficiency of a gene involved in embryonic development may be responsible for its etiology. The gene is

expressed in a limited number of adult tissues, as well as in early human development. (provided by RefSeq, Jul

2008)

GeneCards Summary for GSC2 Gene:

GSC2 (goosecoid homeobox 2) is a protein-coding gene. Diseases associated with GSC2 include digeorge syndrome. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is GSC.